I think I might have…

I’ve been officially sick for over two decades now so I forget what it’s like to be newly diagnosed with a chronic illness. For me, being diagnosed with each of my diseases was a relief – it proved I wasn’t a hypochondriac, or mentally ill, having a panic attack, or simply “sensitive to pain”. But I appreciate for others it’s shattering and they have no clue what to do next. So this page is for those who think they might have M.E., Ehlers-Danlos or Mast Cell Disease (or in my case all three!) – I hope you find it useful.

Disclaimer: the views in this post are my views, after all it’s my blog, but as I say all the time I’m no expert and base my views on my own personal experience which will be different to your personal experience.

Jak’s Primer for Newbies

1. Get a proper diagnosis

It’s pointless (and can be harmful) trying to manage a disease you don’t have, eg. treating for MCAD when you actually have a dust mite allergy, or treating M.E. when you actually have Lyme Disease, or treating for Histamine Intolerance when you actually have Mastocytosis. An accurate medical diagnosis is crucial – you can’t self diagnose and just hope for the best.

Having said all that, actually obtaining an accurate diagnosis can be extremely hard. I’ve had blatant symptoms of both mast cell disease and Ehlers-Danlos since birth, yet wasn’t diagnosed with either until I was in my forties.

At one time or another nearly all my symptoms have been labelled as being psycho-somatic. The first time I was told one of my symptoms (severe back pain) was “all in my head” I was just 13. It eventually turned out I actually had congenital spinal stenosis as part of my Ehlers-Danlos which required surgery. I lost count of the times, over the years, I’ve left doctor’s offices in tears with a diagnosis I knew wasn’t correct or, worse, a psychological explanation or no diagnosis at all. But I kept at it and eventually found the right Consultants, though ended up having to pay privately (funded by my parents) and travel literally to the other end of the country to find good specialists.

I know some people only think they might have a particular disease, but for me personally when I read about the symptoms of Ehlers-Danlos Syndrome I knew absolutely that I had the disease. The same happened when I read about MCAD – I just knew that histamine was the cause of my symptoms. My challenge was to prove it. I was more lucky in my M.E. diagnosis, as my GP was really clued up on the disease, but I know many others aren’t as fortunate – do remember, however, that “chronic fatigue” isn’t M.E.

Receiving a proper diagnosis is such a validating experience and crucial to obtaining the correct care and management advice. Here’s how I’d suggest you go about it (bearing in mind I’m in the UK and obtaining diagnosis will differ in other countries):

M.E.:Contact the ME Association and ask for their Purple Booklet. It provides a comprehensive diagnostic checklist for your GP. If your symptoms are extreme, as mine were, your GP should consider a referral to a Consultant Immunologist or Neurologist for more extensive testing – there are several ME/CFS Clinics now in the UK which include tertiary specialists and if your GP is stuck for who to send you to he/she could contact the Clinic for advice. Remember, the cardinal symptom of ME is “post extertional malaise” not fatigue. This malaise is often delayed, sometimes by 24-72 hours. If I go out for the day I’m often high as a kite when I get home – it’s only 48 hours later that I suddenly feel like I’ve got the raging flu and can barely crawl out of bed.

Ehlers-Danlos Syndrome:
Diagnosis in the UK is usually made by a Rheumatologist, though occasionally patients will be seen by Geneticists. It’s important to choose a Rheumy with good knowledge of EDS – there is a list of specialist EDS Clinics here on my blog or on the EDS UK website. Diagnosis should include testing for a range of hypermobile joints (not just those listed on the Beighton Score sheet!), use of the Brighton Criteria, plus a detailed medical, symptom and family history. The diagnostic guidelines for EDS and hypermobility spectrum disorders were updated in the spring of 2017, so ask at your appt if the new guidelines are being used. Don’t forget to tell the Consultant about any gastro-intestinal, dental, eye, skin and other issues such as having a positive Gorlin’s Sign (being able to touch your nose with your tongue) or having “growing pains” as a child.

Mast Cell Activation Disorder & Histamine IntoleranceIf you suspect you have some kind of mast cell disease you first need to get your tryptase level checked. This can sometimes be done by your GP or if not a local Immunologist. If tryptase is high you will almost certainly have Mastocytosis and be referred to a specialist.If tryptase is normal, the next thing I’d recommend is to be referred to an allergy specialist for skin prick testing. You may have an allergy you didn’t even know about, eg. to the house dust mite. I had no idea I was allergic to my dog or to Birch tree pollen (and as a consequence some foods) until I was properly tested.

Although I have a couple of allergies, these didn’t explain all of my symptoms or my reactions to food and drugs. I very strongly suspected Mast Cell Activation Disorder, which can often go alongside having Ehlers-Danlos Syndrome. For me, there is only one person in the whole of the UK to see if you want a diagnosis of MCAD and that’s Dr Seneviratne at St Mary’s Hospital in London. Unfortunately it will cost you – hundreds of pounds – as he is currently not funded to diagnose or treat MCAD on the NHS so you will have to see him as a private patient. He will test your urine for tryptase and histamine and, if you can afford it, you can now have samples sent to America to be tested for leukotrienes. If these tests are abnormal, and your symptoms and history indicate mast cell involvement, he will want to trial you on antihistamines and/or Sodium Chromoglycate and if you respond it’s a good indicator that you have mast cell disease. He will also test your DAO level which, if low, indicates Histamine Intolerance. Dr S is well versed on the link between MCAD and EDS and wrote a paper on the subject for the new EDS diagnostic guidelines.

If you can’t afford to see Dr S privately, Dr Bethan Myers will also see MCAD patients on the NHS – details on my blog here. She won’t do the histamine and leukotriene tests that Dr S will, but may offer a skin biopsy or bone marrow biopsy that Dr S won’t so she’s definitely worth seeing.

2. Manage your symptoms

Once a firm diagnosis is reached it will allow your symptoms to be appropriately managed, which doesn’t mean they will go away but does mean they should lessen in severity and intensity, you will hopefully sleep better, have more energy, and feel generally less ill. For some people, though, despite the best management plan in the world they remain sick – there is no cure for these diseases and just because one person responds well to treatment doesn’t mean the next person will.

My advice would be to do one thing at a time. Don’t suddenly start a low histamine diet, and anti-histamines, and go gluten-free, and take Quercetin, and and and……! You’re not going to know what’s helping and what’s not.

Treat your most urgent symptoms first. In the case of MCAD things like anaphylaxis, oedema (ie swelling) and breathing issues, which can be life threatening, are a priority. For me, I was having scary anaphylactic reactions after I ate anything so diet was the first thing I tackled. It took 4 months for my reactions to stop, and at times during those months I felt horrendous and like I was getting absolutely nowhere, but I’d decided to try it for 6 months so I stuck to that. Thank God I did.

In the case of Ehlers-Danlos pain was my most pressing symptom, so finding joint braces and supports to stabilize my ligaments while they finally had chance to heal (which took several months) was crucial. For other people it might be gut issues which are most urgent, or treating POTS.

For anyone with M.E. rest is absolutely paramount and the sooner into your illness you do this the better. Rest until you’re so bored with resting you feel like you’re going insane. And then rest some more. Eventually, with a bit of luck and the wind in the right direction, your symptoms will start to stabilize and you can progress to phase two of managing M.E. – pacing rest with activities.

3. Don’t sweat the small stuff

Despite being on antihistamines I still regularly get hives, my skin itches every day of my life and the first thing I do every morning without fail is sneeze my head off. I have no idea why this happens and, to be honest, I don’t really care. It’s annoying but it’s hardly going to kill me, so I simply don’t worry about it. You have enough on your plate without sweating the small stuff and it’s unrealistic to expect to be totally symptom free.

4. Patience is a virtue

As diseases like Ehlers-Danlos and MCAD are so hard to identify, many sufferers have had symptoms for decades (or in some cases since birth) before obtaining a diagnosis so you can’t then expect to just take a few anti-histamines, or have 2 weeks of physiotherapy, or follow a low-histamine diet for a week or three and see a huge change. Be patient. So long as it’s not making you worse, stick with any management plan for 3-6 months and only if you then fail to see improvement should you try something else.

In the case of M.E., expect to take at least a year off from your life, and that includes work. IMHO, no-one with strictly defined M.E. will recover while they are working or carrying on life as if nothing is happening. If you don’t take time out you can guarantee that the illness will progress in severity until it forces you to take time out, and by then chances for any kind of substantial recovery have already dwindled. I wish someone had told me this when I first got sick and I wish I’d listened – maybe then I might not still have M.E. this severely twenty years later.

5. Accept there is no cure

If there were a cure for MCAD, Ehlers-Danlos or M.E.. I wouldn’t be writing this blog. I’d be on a beach in the Bahamas swimming in the warm ocean, drinking wine and working on my tan.

On a more serious note, it took me 6 years after my diagnosis of M.E. in 1994 to realize that I wasn’t ever going to be well again. My old life was gone. It’s a huge thing to have to come to terms with and is a process which will be different for everyone. However, in accepting I will always be sick I found peace and could start living again.

I watch many newly diagnosed people frantically researching their disease online and joining every group going in the hopes of being cured. They read about one person who tried a gluten-free diet, or did the MTHFR protocol, or followed a plant based diet, or tried Prolotherapy and healed themselves and they think by trying it too it will cure them. If you heal yourself by not eating gluten you had a gluten intolerance, not ME, EDS or MCAD. Please be aware that the people cured in this way obviously didn’t have the disease(s) which you do.

If not eating folic acid or gluten cured ME, EDS or Mast Cell Disease do you really think the government wouldn’t be on the case – they’d do anything to save money and sick people are expensive! If I could tell newly diagnosed people one thing it would be to not believe everything they read on the internet and to save themselves years of time and effort and just accept they’re sick. But I know you’ll all ignore me and try the “miracle cures” anyway because it’s part of the journey to accepting you’re chronically ill. I’m not saying changes in diet and lifestyle, or certain supplements etc., won’t help some symptoms, but they absolutely won’t cure you.

Chronic diseases are, by their very definition, chronic. The dictionary explanation of “chronic” is: constant; continuing a long time or recurring frequently; having long duration.

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18 thoughts on “I think I might have…”

Hi Jak,
Thank you for taking the time to chronicle all this information, it is immensely helpful. I do not have a medical diagnosis of any of these conditions and only just found your blog yesterday. I am 45 years old and just now recognized that I have had SO many of the symptoms of HIT and GERD since early childhood but the symptoms were fairly mild and until, now seemed unrelated to each other.

At 13 I was diagnosed with sudden-onset, chronic asthma and severe allergies after a bout of pneumonia and an anaphylactic reaction to sulfites. Over the years the “allergies” grew in intensity and after 5 sinus surgeries I was diagnosed with an incurable, mutating, chronic sinus infection, presumable caught in the hospital. I could not function without daily oral corticosteroids by the age of 25 and an additional daily antibiotic by the age of 35, and I have been on them ever since, in addition to Claritin D. Like so many others, I have literally been to hundreds of doctors, specialists, holistic practitioners, nutritionists, etc. I have searched, tried countless therapies, major dietary modifications and avoidance, prescription drugs, non-traditional medicine, etc and I’ve also been told it was all in my head…

My husband and I moved to France in January and I have been very ill since, despite increasing my medication and following a rather strict diet of only fresh fruits, vegetables and lean meats. The avoidance diets I have been on were based on allergy tests, and most of the foods that bother me do not show up on those tests. After one day of food and symptom journaling I can see a direct correlation between plain ground turkey and a mass of symptoms including stomach pain, diarrhea, shortness of breath, itching, etc. I am certain that HIT is a major factor in my problem and that I’ve been looking at the wrong things. I also feel that refrigeration may play a role in this as I did not have any problems with meat in Los Angeles. I will continue to journal and try to lower my histamine bucket through avoidance. Do you have any suggestions as far as testing is concerned? I have full medical coverage here in France but have been to 3 GPs so far and have been really unimpressed. My GP wants me to try a pulmonologist, although I am certain an immunologist would be a better route. Can you site a few tests that you think may be useful?

So pleased you’re finding the blog helpful 🙂 I thought I had a really healthy diet too and didn’t realize I was eating loads of high histamine foods! It’s such a nightmare.

I have no clue who’d you’d see in France for HIT I’m sorry. But the test you need is for Diamine Oxydase (or DAO). There is some debate, however, on how accurate this test is but sadly it’s currently all we have. There is another gut enzyme involved in histamine breakdown called histamine-N-methyltransferase (HNMT) but we can’t test for this at present. There’s a good HIT paper here if you’d like a read: http://ajcn.nutrition.org/content/85/5/1185.long

Even without testing, you could try a low histamine diet for 3 months and see if you notice any changes. I felt dreadful when I first started the diet but stuck with it – it does take some time for symptoms to subside, especially if you’ve been ill for several years.

Actually anyone can do gene testing for snps (single nuclear polymorphisms) in the genes that code for the DAO enzymes that are believed to be involved in HIT at 23andme.com. No physician necessary and yes, you can do it from overseas. (23andme is based in the US) You can also find out what snps you might have in the genes that code for the HNMT enzyme as well.

The international Society of DAO deficiency says that only one of seven polymorphisms has a relationship to low DAO activity and that one has a significant effect on histamine breakdown. However another site claims that 2

See: http://www.deficitdao.org/factores-geneticos.php#.VWYINGCum3Y
“Among all polymorphisms found in DAO sequence, it has been proved that only one of the 7 polymorphisms, (with reference rs1049793) located in the third exon, has relation with low DAO activity.
Carriers of this polymorphism, present lower DAO activity than controls with significant effect. Preliminary studies suggest that this polymorphism has an overall prevalence close to 0.30% (30% of mutated alleles).”

Thanks for that Linda. I’ve tried looking into genes and it’s just way over mine, and many other people’s, heads I’m afraid. However, maybe the original poster might not have as much brain fog as me and be able to decipher it all!

Well, I guess I am lucky in that regard. I have studied nutrition and biochemistry (as well as Anatomy and Physiology and then took tons of courses from De. Ben Lynch over at mthfr.net. And I did this because of a lifetime of getting sicker and sicker and having no physician (allopathic or holistic) not only not help me, but make me worse. So I started taking courses. If no one was going to help me I figured I had to do it myself. and that meant understanding the science.

Hi Jak
I’m about to see a uro/gyn guy at the Lindo wing of St. Mary’s hospital who also has a great interest in mast cell disorders. Will have bladder biopsies done to determine why I still get bladder pain after a year and he will be looking for mast cell activity and can apparently test dao that way too!!!! I am in touch with another patient who went down that route to get confirmation of a mast cell problem. He is in the same place as Dr. Seneviratne. I didn’t know which way to go at first, but because I have had bladder issues since a Uti last September I need to know if an infection is still there, but unbeknown as urine samples are always negative. If he can confirm the mast cell problem, then I would not need to see Dr. Seneviratne. I’m not insured, so costing me more than an arm and a leg, but like you I need some kind of confirmation of what I am dealing with on a daily basis. My hives and angiioedema are getting worse and the anti histamines are hardly keeping it down. Been on low histamine diet for 5 months and gluten free for 9 months. A bloody miserable existence at the moment,

I know the doctor you mean and have a friend who has seen him. He’s very nice and very good and works closely with Dr S. He’s well clued up on mast cell issues in the bladder so you are in the best hands. Good luck and let me know how it goes. Jak x

Thank you Jak. It’s Dr Vic Khullar. I must admit I am very nervous, but hopefully will get me somewhere. I appreciate your response and feel better that you have heard of him too. I will definitely let you know how I get on, because if it can help me it may help others too.

Just had massive row with our surgery. They were supposed to refer me to an immunologist. When we phoned to check on status, they had had no info from my doctor. Bloody hell. No wonder you get so frustrated with the medical profession. Sodding useless a lot of them. Talk about having to be your own advocate in these situations. If it wasn’t for my hubby I would have given up ages ago and downed a couple of bottles (and not alcohol either). I admire your tenacity in soldiering on, especially on your own. I don’t know how you do it.

Hi Jak
Been a long day. Just seen Mr. Khullar. A really lovely man. He just gets the whole thing doesn’t he? Having blood tests and urine tests done as he is certain a mast cell/histamine issue going on. With the chronic hives and bruising of which he could not believe, and even more so was angry that my gp was not interested in helping me with it, he said something serious is going on, either allergy or infection wise. He tested me too for hyper mobility of which I never even gave a thought and diagnosed yes have that too, although nothing like you have to deal with. I asked about food etc as I had been very strict for almost 7 months with not much improvement and he feels it is not food related but something else going on. Big dollar question now is what? Urine tests done that are more specific than your normal NHS ones which test below the NHS threshold. Could still be a year long undetected infection that is driving the histamine crazy. It was due to your blog that got me searching further for answers. At least I have someone who will listen to me and try and help. Just got to wait now for results. If no infection showing then trialling sodium chromoglycate and some other liquid – can’t remember .the name to try and suppress the mast cell activity as long as I can tolerate it – ie the allergy side, like you.

Dr Khullar is and has been consistently brilliant , human , kind , knowledgeable and very clever with me and another friend . You are in good hands . It takes time but he is as tenacious as is needed with our diseases . He genuinely hates our suffering which goes a long long way in being soothing !!! Good luck . You are not alone but my God it will feel like it over and over ?! We are a strong and amazing group of warriors ! Catherine

Ps
He found infections when no one else had . They do not show up normally in Eds and MACD patients ( with my POTS I never have fevers as far as normal testing goes but hey presto yes I do when the doctors understand 😠😡😏😳😖.Very rare )
Inside out and back to front but with plenty of humous ( humour ) it is possible to keep thriving ….. Mostly !! Except when it just isn’t . Then in a puddle I have to wait ……..
So far my humous has always kept the better of me going .

Just read through a few of your posts and wondered whether you have tested for Lyme and co infections? (ALL of your diagnoses are also symptoms of Lyme+.) Not the NHS test (50% sensitivity) but maybe through one of the better German or US labs.

Thanks for the comment Shelley. Some of my symptoms are common to Lyme (and various other diseases), but my history doesn’t fit Lyme in any way. I was born with both EDS and MCAD and had my first symptoms aged 4. Both my EDS and MCAD can be tested for and I am positive for both. I then developed M.E. following a tummy bug + adverse drug reaction while working on a cruise liner and, although there is no test for ME, as far as I know there are no ticks in the middle of the Atlantic Ocean so Lyme was never suspected. Jak.

Welcome!

Hi. Thanks for visiting my Blog. Posts are listed newest first, but if you’d like to start with my first rambling written in 2013 click here. I’m not a mast cell or EDS expert and have no medical training. I’m just sharing my own personal thoughts and journey. This isn’t a forum, more a diary, but polite, respectful comments & questions are welcome – click the ‘leave a reply’ link under post titles or scroll to the end of each post and use the comments box.

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